Publications by authors named "Mohamed S Abdel-Hamid"

40Publications

Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.

Am J Med Genet A 2020 Dec 19;182(12):2857-2866. Epub 2020 Sep 19.

Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.61857DOI Listing
December 2020

Two new families with enamel renal syndrome: A novel FAM20A gene mutation and review of literature.

Eur J Med Genet 2020 Nov 22;63(11):104045. Epub 2020 Aug 22.

Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.104045DOI Listing
November 2020

Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification.

Prenat Diagn 2020 Aug 24. Epub 2020 Aug 24.

Department of Clinical Genetics, Division of Human Genetics and Genome Research, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/pd.5818DOI Listing
August 2020

Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights.

Clin Genet 2020 Nov;98(5):445-456

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1111/cge.13825DOI Listing
November 2020

Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families.

BMC Med Genomics 2020 05 13;13(1):68. Epub 2020 May 13.

Departments of Neurosciences and Pediatrics, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA.

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http://dx.doi.org/10.1186/s12920-020-0714-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218834PMC
May 2020

KBG syndrome in two patients from Egypt.

Am J Med Genet A 2020 06 28;182(6):1309-1312. Epub 2020 Mar 28.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.61552DOI Listing
June 2020

Lenz-Majewski syndrome in a patient from Egypt.

Am J Med Genet A 2019 10 12;179(10):2039-2042. Epub 2019 Aug 12.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.61327DOI Listing
October 2019

Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly.

Am J Med Genet A 2019 03 13;179(3):494-497. Epub 2019 Jan 13.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.61035DOI Listing
March 2019

GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.

Am J Med Genet A 2019 02 21;179(2):237-242. Epub 2018 Dec 21.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.61021DOI Listing
February 2019

Phenotypic and molecular insights into PQBP1-related intellectual disability.

Am J Med Genet A 2018 11 23;176(11):2446-2450. Epub 2018 Sep 23.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.40479DOI Listing
November 2018

Aromatase Deficiency due to a Homozygous CYP19A1 Mutation in a 46,XX Egyptian Patient with Ambiguous Genitalia.

Sex Dev 2017 12;11(5-6):275-279. Epub 2018 Jan 12.

Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1159/000485278DOI Listing
October 2018

Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation.

Ophthalmic Genet 2018 04 15;39(2):215-220. Epub 2017 Nov 15.

a Clinical Genetics Department, Human Genetics and Genome Research Division , National Research Centre , Cairo , Egypt.

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http://dx.doi.org/10.1080/13816810.2017.1401089DOI Listing
April 2018

Genetic mutation in Egyptian children with steroid-resistant nephrotic syndrome.

J Formos Med Assoc 2018 Jan 3;117(1):48-53. Epub 2017 Apr 3.

Kasr Al Ainy School of Medicine, Cairo University, Cairo, Egypt.

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http://dx.doi.org/10.1016/j.jfma.2017.02.012DOI Listing
January 2018

Aicardi-Goutières syndrome: unusual neuro-radiological manifestations.

Metab Brain Dis 2017 06 23;32(3):679-683. Epub 2017 Mar 23.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1007/s11011-017-9993-4DOI Listing
June 2017

A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract.

Metab Brain Dis 2017 04 22;32(2):311-315. Epub 2017 Feb 22.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Tahrir street, Dokki, Giza, Cairo, 12311, Egypt.

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http://dx.doi.org/10.1007/s11011-017-9971-xDOI Listing
April 2017

Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations.

J Hum Genet 2017 Apr 9;62(5):553-559. Epub 2017 Feb 9.

Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1038/jhg.2017.4DOI Listing
April 2017

Novel AMH and AMHR2 Mutations in Two Egyptian Families with Persistent Müllerian Duct Syndrome.

Sex Dev 2017 1;11(1):29-33. Epub 2017 Feb 1.

Department of Clinical Genetics, Human Genetic and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1159/000455019DOI Listing
November 2017

Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect.

Metab Brain Dis 2016 10 7;31(5):1171-9. Epub 2016 Jul 7.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Tahrir street, Dokki, Cairo, Egypt.

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http://dx.doi.org/10.1007/s11011-016-9861-7DOI Listing
October 2016

Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.

Eur J Paediatr Neurol 2016 Sep 30;20(5):714-22. Epub 2016 May 30.

Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.

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http://dx.doi.org/10.1016/j.ejpn.2016.05.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4993451PMC
September 2016

Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.

Am J Med Genet A 2016 08 2;170(8):2133-40. Epub 2016 Jun 2.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.37724DOI Listing
August 2016

PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.

Ann Neurol 2016 07 1;80(1):59-70. Epub 2016 Jun 1.

Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Rockefeller University, New York, NY.

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http://dx.doi.org/10.1002/ana.24678DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938747PMC
July 2016

De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder.

Pediatr Dermatol 2016 Mar-Apr;33(2):e109-13. Epub 2016 Feb 12.

Clinical Genetics Department, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1111/pde.12821DOI Listing
January 2017

Long-term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18-year-old male with g.55G>A homozygous mutation in RNU4ATAC.

Am J Med Genet A 2016 Jan 30;170A(1):277-82. Epub 2015 Sep 30.

Department of Medical Molecular Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://doi.wiley.com/10.1002/ajmg.a.37409
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http://dx.doi.org/10.1002/ajmg.a.37409DOI Listing
January 2016

Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.

Am J Med Genet A 2015 Dec 18;167A(12):3054-61. Epub 2015 Aug 18.

Department of Clinical Genetics, Division of Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.37287DOI Listing
December 2015

Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype.

Am J Med Genet A 2015 May 10;167A(5):1089-99. Epub 2015 Mar 10.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.37010DOI Listing
May 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

Neuropediatrics 2014 Dec 22;45(6):386-93. Epub 2014 Sep 22.

Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester, United Kingdom.

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http://dx.doi.org/10.1055/s-0034-1389161DOI Listing
December 2014

A novel mutation (c.2735_2736delTC) in the androgen receptor gene in 46,XY females with complete androgen insensitivity syndrome in an Egyptian family.

Horm Res Paediatr 2014 16;82(6):411-4. Epub 2014 Jul 16.

Department of Clinical Genetics, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1159/000360292DOI Listing
October 2015

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Lancet Neurol 2013 Dec 30;12(12):1159-69. Epub 2013 Oct 30.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1016/S1474-4422(13)70258-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349523PMC
December 2013

Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I.

Am J Med Genet A 2013 Aug 21;161A(8):1875-81. Epub 2013 Jun 21.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.36009DOI Listing
August 2013

Profound microcephaly, primordial dwarfism with developmental brain malformations: a new syndrome.

Am J Med Genet A 2012 Aug 11;158A(8):1823-31. Epub 2012 Jul 11.

Division of Human Genetics and Genome Research, Department of Clinical Genetics, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.35480DOI Listing
August 2012

Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.

Am J Med Genet A 2012 Jun 11;158A(6):1455-61. Epub 2012 May 11.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.35356DOI Listing
June 2012

A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.

Am J Med Genet A 2011 Nov 11;155A(11):2885-96. Epub 2011 Oct 11.

Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

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http://dx.doi.org/10.1002/ajmg.a.34299DOI Listing
November 2011